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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2009-8-14
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pubmed:abstractText |
Ichthyosis prematurity syndrome (IPS) is an autosomal-recessive disorder characterized by premature birth and neonatal asphyxia, followed by a lifelong nonscaly ichthyosis with atopic manifestations. Here we show that the gene encoding the fatty acid transport protein 4 (FATP4) is mutated in individuals with IPS. Fibroblasts derived from a patient with IPS show reduced activity of very long-chain fatty acids (VLCFA)-CoA synthetase and a specific reduction in the incorporation of VLCFA into cellular lipids. The human phenotype is consistent with Fatp4 deficiency in mice that is characterized by a severe skin phenotype, a defective permeability barrier function, and perturbed VLCFA metabolism. Our results further emphasize the importance of fatty acid metabolism for normal epidermal barrier function illustrated by deficiency of a member in the FATP family of proteins.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/19631310-10712205,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19631310-10712223,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19631310-11590543,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19631310-11773004,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19631310-12452182,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19631310-12697906,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19631310-12821645,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19631310-12856180,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19631310-12915478,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/19631310-14985385,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19631310-15317751,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19631310-15756637,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/19631310-16946994,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/19631310-17401141,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19631310-17495600,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19631310-17522045,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19631310-17557927,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19631310-18245815,
http://linkedlifedata.com/resource/pubmed/commentcorrection/19631310-18258213,
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1537-6605
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
85
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
248-53
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pubmed:dateRevised |
2010-9-27
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pubmed:meshHeading |
pubmed-meshheading:19631310-Biopsy,
pubmed-meshheading:19631310-Case-Control Studies,
pubmed-meshheading:19631310-Codon, Nonsense,
pubmed-meshheading:19631310-Coenzyme A Ligases,
pubmed-meshheading:19631310-Consanguinity,
pubmed-meshheading:19631310-Epidermis,
pubmed-meshheading:19631310-Fatty Acid Transport Proteins,
pubmed-meshheading:19631310-Female,
pubmed-meshheading:19631310-Founder Effect,
pubmed-meshheading:19631310-Genes, Recessive,
pubmed-meshheading:19631310-Haplotypes,
pubmed-meshheading:19631310-Heterozygote,
pubmed-meshheading:19631310-Homozygote,
pubmed-meshheading:19631310-Humans,
pubmed-meshheading:19631310-Infant, Newborn,
pubmed-meshheading:19631310-Infant, Premature,
pubmed-meshheading:19631310-Lipid Metabolism,
pubmed-meshheading:19631310-Mutation,
pubmed-meshheading:19631310-Pregnancy,
pubmed-meshheading:19631310-Skin Diseases, Genetic,
pubmed-meshheading:19631310-Syndrome
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pubmed:year |
2009
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pubmed:articleTitle |
Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.
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pubmed:affiliation |
Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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